ArticleInvestigative ophthalmology & visual science2015
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.
Article in Investigative ophthalmology & visual science, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- The m 6 A writer VIRMA regulates the developmental elimination of retinal astrocytes and retinal vascular integrity maintenance.Neural regeneration research · 2026Article
- Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.Matrix biology : journal of the International Society for Matrix Biology · 2026Article
- Collagen IV in Gould syndrome and Alport syndrome.Nature reviews. Nephrology · 2025Review
- A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome.The Journal of cell biology · 2025Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Multimodal neuroimaging ofFrontiers in neuroscience · 2025Article
- Basement membranes' role in immune cell recruitment to the central nervous system.Journal of inflammation (London, England) · 2024Article
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.Cells & development · 2024Article
- Modeling complex age-related eye disease.Progress in retinal and eye research · 2024Review
- Interstitial Fluidopathy of the Central Nervous System: An Umbrella Term for Disorders with Impaired Neurofluid Dynamics.Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine · 2024Article
- Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Journal of clinical laboratory analysis · 2022Article
- Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.Human molecular genetics · 2019Article
- Trabecular meshwork morphogenesis: A comparative analysis of wildtype and anterior segment dysgenesis mouse models.Experimental eye research · 2018Article
- Article
- NovelHuman genome variation · 2018Article
- Genetic modifiers as relevant biological variables of eye disorders.Human molecular genetics · 2017Review
- Genetic dissection of anterior segment dysgenesis caused by aDisease models & mechanisms · 2017Article
- A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion ofDisease models & mechanisms · 2017Article
- Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Matrix biology : journal of the International Society for Matrix Biology · 2017Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
purposeMutations in the gene encoding collagen type IV alpha 1 (COL4A1) cause multisystem disorders including anterior segment dysgenesis (ASD) and optic nerve hypoplasia. The penetrance and severity of individual phenotypes depends on genetic context. Here, we tested the effects of a Col4a1 mutation in two different genetic backgrounds to compare how genetic context influences ocular dysgenesis, IOP, and progression to glaucoma.
methodsCol4a1 mutant mice maintained on a C57BL/6J background were crossed to either 129S6/SvEvTac or CAST/EiJ and the F1 progeny were analyzed by slit-lamp biomicroscopy and optical coherence tomography. We also measured IOPs and compared tissue sections of eyes and optic nerves.
resultsWe found that the CAST/EiJ inbred strain has a relatively uniform and profound suppression on the effects of Col4a1 mutation and that mutant CASTB6F1 mice were generally only very mildly affected. In contrast, mutant 129B6F1 mice had more variable and severe ASD and IOP dysregulation that were associated with glaucomatous signs including lost or damaged retinal ganglion cell axons and excavation of the optic nerve head.
conclusionsOcular defects in Col4a1 mutant mice model ASD and glaucoma that are observed in a subset of patients with COL4A1 mutations. We demonstrate that different inbred strains of mice give graded severities of ASD and we detected elevated IOP and glaucomatous damage in 129B6F1, but not CASTB6F1 mice that carried a Col4a1 mutation. These data demonstrate that genetic context differences are one factor that may contribute to the variable penetrance and severity of ASD and glaucoma in patients with COL4A1 mutations.
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